Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
ACCACTTGGCTTGAGATCCACAGCT[A/G]TAAAACCATATATTCTTGAGGAAGG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 607243 | ||||||||||||||||||||
Literature Links: |
AP4S1 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
AP4S1 - adaptor related protein complex 4 sigma 1 subunit | ||||||
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There are no transcripts associated with this gene. |
HECTD1 - HECT domain E3 ubiquitin protein ligase 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_015382.3 | 7151 | Missense Mutation | ACA,ATA | T,I 2424 | NP_056197.3 | |
XM_005267502.2 | 7151 | Missense Mutation | ACA,ATA | T,I 2424 | XP_005267559.2 | |
XM_011536619.2 | 7151 | Missense Mutation | ACA,ATA | T,I 2422 | XP_011534921.1 | |
XM_011536621.2 | 7151 | Missense Mutation | ACA,ATA | T,I 2145 | XP_011534923.1 | |
XM_011536622.1 | 7151 | Missense Mutation | ACA,ATA | T,I 1874 | XP_011534924.1 | |
XM_017021148.1 | 7151 | Missense Mutation | ACA,ATA | T,I 2377 | XP_016876637.1 | |
XM_017021149.1 | 7151 | Missense Mutation | ACA,ATA | T,I 2375 | XP_016876638.1 | |
XM_017021150.1 | 7151 | Missense Mutation | ACA,ATA | T,I 2363 | XP_016876639.1 | |
XM_017021151.1 | 7151 | Missense Mutation | ACA,ATA | T,I 2145 | XP_016876640.1 | |
XM_017021152.1 | 7151 | Missense Mutation | ACA,ATA | T,I 2143 | XP_016876641.1 | |
XM_017021153.1 | 7151 | Missense Mutation | ACA,ATA | T,I 2143 | XP_016876642.1 |